Nicole de Leeuw

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. doi request reprint SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control
    N de Leeuw
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Cytogenet Genome Res 135:212-21. 2011
  2. pmc Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
    Caroline Robberecht
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Mol Cytogenet 5:19. 2012
  3. doi request reprint Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
    Marjolein H Willemsen
    849 Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Med Genet 55:586-98. 2012
  4. doi request reprint Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
    Bart C W Kuipers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 22:18-21. 2013
  5. doi request reprint CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands
    Hum Mol Genet 22:3138-51. 2013
  6. doi request reprint Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature
    Dorothée C van Trier
    Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Med Genet 56:426-31. 2013
  7. pmc Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 20:729-33. 2012
  8. doi request reprint Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience
    Brigitte H W Faas
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prenat Diagn 32:362-70. 2012
  9. doi request reprint Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
    Farmaditya E P Mundhofir
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Gene 511:451-4. 2012

Collaborators

  • Mariken Ruiter
  • Tjitske Kleefstra
  • Jayne Y Hehir-Kwa
  • Lisenka E L M Vissers
  • Marjolein H Willemsen
  • Angelique J A Kooper
  • B H W Faas
  • Hans van Bokhoven
  • A Simons
  • Bregje W M van Bon
  • Bert B A de Vries
  • Dorothée C van Trier
  • Bart C W Kuipers
  • David A Koolen
  • Caroline Robberecht
  • Farmaditya E P Mundhofir
  • Patrik Verstreken
  • Leo G Nijtmans
  • Rolph Pfundt
  • Michaela Fenckova
  • Annette Schenck
  • Lenke Asztalos
  • Ilse Feenstra
  • Martijn A Huynen
  • Petra Bot
  • Jos M Th Draaisma
  • Carlo Marcelis
  • Bonnie Nijhof
  • Anneke T Vulto-van Silfhout
  • Zoltan Asztalos
  • Jamie M Kramer
  • Jan A Smeitink
  • Lillian Eshuis
  • Melissa Vos
  • Anna Castells-Nobau
  • Licio Collavin
  • Judith Besseling
  • Richard J Rodenburg
  • Erika Viragh
  • Falko Hofmann
  • Merel A W Oortveld
  • Sultana M H Faradz
  • Arjan P M de Brouwer
  • Willy Nillesen
  • Joris Vermeesch
  • James Steer
  • Michael J Parker
  • Tri Indah Winarni
  • Dominique Smeets
  • Juliette Dupont
  • Albert Schinzel
  • Helger G Yntema
  • Thierry Voet
  • Leo P ten Kate
  • Simone P A van den Heuvel
  • Gülen E Utine
  • Jean Pierre Fryns
  • Alyson Bradbury
  • Ben C J Hamel
  • Willy M Nillesen

Detail Information

Publications9

  1. doi request reprint SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control
    N de Leeuw
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Cytogenet Genome Res 135:212-21. 2011
    ....
  2. pmc Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
    Caroline Robberecht
    Department of Human Genetics, Catholic University Leuven, Leuven, Belgium
    Mol Cytogenet 5:19. 2012
    ..We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses...
  3. doi request reprint Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
    Marjolein H Willemsen
    849 Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Med Genet 55:586-98. 2012
    ..The prevalence of X-chromosome copy number variations in this cohort was 57/4407 (∼1.3%), of which 15 (0.3%) were interpreted as (likely) pathogenic...
  4. doi request reprint Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3
    Bart C W Kuipers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Dysmorphol 22:18-21. 2013
    ..The overlapping deleted region harbors six genes (RREB1, NRN1, CAGE1, LY86, SSR1, and F13A1), of which NRN1 and RREB1 are considered as candidate genes for the intellectual disability and the overlapping dysmorphism, respectively...
  5. doi request reprint CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
    Bregje W M van Bon
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands
    Hum Mol Genet 22:3138-51. 2013
    ..We conclude that CEP89 proteins play an important role in mitochondrial metabolism, especially complex IV activity, and are required for neuronal and cognitive function across evolution. ..
  6. doi request reprint Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature
    Dorothée C van Trier
    Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands
    Eur J Med Genet 56:426-31. 2013
    ..A careful cardiac evaluation consisting of physical examination, ECG and ultrasound examination should be performed in all individuals diagnosed with the 18q deletion syndrome. ..
  7. pmc Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
    David A Koolen
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 20:729-33. 2012
    ..31 microdeletion for future pregnancies is higher than by chance alone and testing for mosaicism in the parents might be considered as a helpful tool in the genetic counselling...
  8. doi request reprint Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience
    Brigitte H W Faas
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prenat Diagn 32:362-70. 2012
    ....
  9. doi request reprint Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
    Farmaditya E P Mundhofir
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Gene 511:451-4. 2012
    ..Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4 Mb region of chromosome 9q34.11q34.13...